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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-12-2012
Symbol CLN12
Location 1p36
Name ceroid-lipofuscinosis, neuronal, 12
Corresponding gene ATP13A2
Main clinical features
  • juvenile form
  • difficulties in learning from around the ages of 8 years, with vacuolated lymphocytes
  • unsteady gait, myoclonus and mood disturbance, progressing to clear extrapyramidal involvement with akinesia and rigidity, and dysarthric speech
  • progressive spinocerebellar ataxia, bulbar syndrome, extrapyramidal and pyramidal involvement, and intellectual deterioration
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease